Results 51 to 60 of about 19,584 (222)
Food for thought : palatable eponyms from Pediatrics [PDF]
Food-related medical terms are frequently used in the field of pediatrics for the definition, recognition and diagnosis of disease. Almost 40 food-related medical eponyms used in Pediatrics have been ‘cherry picked’ and described by the authors.
Kipersztok, Lisa, Masukume, Gwinyai
core
Clinical and Genetic Characteristics of Free Sialic Acid Storage Disorder
ABSTRACT Free sialic acid storage disorder (FSASD) is a lysosomal storage disorder that results from biallelic pathogenic variants in the SLC17A5 gene. This gene codes for sialin, a 12‐transmembrane domain protein that exports the charged sugar N‐acetylneuraminic acid (Neu5Ac; sialic acid) out of the lysosome.
Zoe Wolfenson +18 more
wiley +1 more source
Identifying the population susceptible to rubella in Japan, 2020: Fine-scale risk mapping
Background: Rubella remains a public health challenge in Japan, impeding the attainment of herd immunity. Despite vaccination efforts since 1976, persistent outbreaks reveal a susceptibility gap in male adults born before 1995.
Ryo Kinoshita +3 more
doaj +1 more source
Congenital Rubella Syndrome: It Still Exists in India [PDF]
We report here a case of congenital rubella syndrome in a child who presented with hearing loss, patent ductus arteriosus and coloboma of the eye. The child was evaluated and rehabilitated using high gain hearing aid.
Satheesh K. Bhandary +4 more
doaj
ABSTRACT Purpose Adverse drug reactions (ADRs) present significant obstacles for healthcare systems, impacting both patient safety and the effectiveness of treatments. Despite this, there is a scarcity of research on ADR reports in Sierra Leone, especially over long periods.
Isatu Jalloh +4 more
wiley +1 more source
Using Seroprevalence and Immunisation Coverage Data to Estimate the Global Burden of Congenital Rubella Syndrome, 1996-2010: A Systematic Review. [PDF]
BACKGROUND: The burden of Congenital Rubella Syndrome (CRS) is typically underestimated in routine surveillance. Updated estimates are needed following the recent WHO position paper on rubella and recent GAVI initiatives, funding rubella vaccination in ...
Adams, Elisabeth J +10 more
core +7 more sources
The corresponding images are as follows: enhanced fetal renal echo, enhanced fetal renal echo complicated with hydronephrosis, cardiac abnormality, chromosome microarray analysis: microdeletion of chromosome 17, whole‐exome sequencing: microdeletion of chromosome 17.
Haihong Liu +4 more
wiley +1 more source
Introduction: Serologic surveys conducted in different countries indicate that rubella is a worldwide infection. Several such sero surveys conducted in India have also confirmed that 6-47% of women are susceptible to rubella infection. The current study
Hitt J Sharma +8 more
doaj +1 more source
Diagnostic virology services are increasingly available and pertinent as the number of useful antiviral agents grows. In this article, current methods of diagnosis are reviewed with special emphasis on rapid procedures.
Drew, WL
core
Exposição à teratógenos e anormalidades oculares congênitas em pacientes brasileiros portadores da sequência de Möbius [PDF]
Purpose: To assess the sociodemographic profiles, teratogen exposures, and ocular congenital abnormalities in Brazilian patients with Möbius sequence. Method: Forty-four patients were recruited from the Brazilian Möbius Sequence Society.
Brandt, Carlos Teixeira +11 more
core +2 more sources

